Linked Data
ClinVar Variation Id:
93110
ClinVar RCV Id:
RCV000078926
dbSNP Id:
rs62653599
gnomAD v2:
7-92123612-CAGG-C
gnomAD v3:
7-92494298-CAGG-C
gnomAD v4:
7-92494298-CAGG-C
COSMIC:
COSM1452834
MyVariant Identifiers:
chr7:g.92123613_92123615del (hg19)
chr7:g.92123613_92123615delAGG (hg19)
chr7:g.92494299_92494301del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494306_92494308del , CM000669.2:g.92494306_92494308del | GRCh38 |
| NC_000007.13:g.92123620_92123622del , CM000669.1:g.92123620_92123622del | GRCh37 |
| NC_000007.12:g.91961556_91961558del | NCBI36 |
| NG_008341.1:g.39231_39233del | |
| NG_008341.2:g.39231_39233del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.3022_3024del (PEX1) MANE Select | ENSP00000248633.4:p.Pro1008del | |
| ENST00000248633.8:c.3022_3024del (PEX1) | ENSP00000248633.4:p.Pro1008del | |
| ENST00000428214.5:c.2851_2853del (PEX1) | ENSP00000394413.1:p.Pro951del | |
| ENST00000438045.5:c.2056_2058del (PEX1) | ENSP00000410438.1:p.Pro686del | |
| ENST00000484913.5:n.3061_3063del (PEX1) | ||
| ENST00000496420.5:n.2914_2916del (PEX1) | ||
| NM_000466.2:c.3022_3024del (PEX1) | NP_000457.1:p.Pro1008del | |
| NM_001282677.1:c.2851_2853del (PEX1) | NP_001269606.1:p.Pro951del | |
| NM_001282678.1:c.2398_2400del (PEX1) | NP_001269607.1:p.Pro800del | |
| XM_005250433.3:c.1273_1275del (PEX1) | XP_005250490.1:p.Pro425del | |
| XR_242246.3:n.3118_3120del (PEX1) | ||
| XM_017012319.2:c.1273_1275del (PEX1) | XP_016867808.1:p.Pro425del | |
| XR_001744808.2:n.2049_2051del (PEX1) | ||
| XR_001744843.2:n.5275_5277del (GATAD1) | ||
| XR_242246.5:n.3069_3071del (PEX1) | ||
| XR_927494.3:n.4126_4128del (GATAD1) | ||
| XR_927503.3:n.4057_4059del (GATAD1) | ||
| NM_000466.3:c.3022_3024del (PEX1) MANE Select | NP_000457.1:p.Pro1008del | |
| NM_001282677.2:c.2851_2853del (PEX1) | NP_001269606.1:p.Pro951del | |
| NM_001282678.2:c.2398_2400del (PEX1) | NP_001269607.1:p.Pro800del |